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EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Metab. Brain Dis. 31, 717-721 (2016)
DOI
Mitochondrial aminoacyl tRNA synthetases are essential for organelle protein synthesis. Genetic defects affecting the function of these enzymes may cause pediatric mitochondrial disease. Here, we report on a child with fatal neonatal lactic acidosis and recurrent hypoglycemia caused by mutations in EARS2, encoding mitochondrial glutamyl-tRNA synthetase 2. Brain ultrasound revealed agenesis of corpus callosum. Studies on patient-derived skin fibroblasts showed severely decreased EARS2 protein levels, elevated reactive oxygen species (ROS) production, and altered mitochondrial morphology. Our report further illustrates the clinical spectrum of the severe neonatal-onset form of EARS2 mutations. Moreover, in this case the live-cell parameters appeared to be more sensitive to mitochondrial dysfunction compared to standard diagnostics, which indicates the potential relevance of fibroblast studies in children with mitochondrial diseases.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ltbl ; Mitochondrial Morphology ; Mitochondrial Translation ; Oxphos ; Ros; Mitochondrial; Growth; Gene
ISSN (print) / ISBN 0885-7490
e-ISSN 1573-7365
Zeitschrift Metabolic Brain Disease
Quellenangaben Band: 31, Heft: 3, Seiten: 717-721 Artikelnummer: , Supplement: ,
Verlag SPRINGER/PLENUM PUBLISHERS
Verlagsort New York, NY
Begutachtungsstatus peer-reviewed